ClinVar Miner

List of variants in gene HEXB reported as likely benign for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 372
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) rs113678356 0.00177
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.1437A>C (p.Gln479His) rs139129900 0.00034
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000521.4(HEXB):c.299+7G>C rs371930917 0.00017
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000521.4(HEXB):c.558+16A>G rs191028207 0.00013
NM_000521.4(HEXB):c.1536A>G (p.Arg512=) rs139971120 0.00012
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg) rs531151091 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000521.4(HEXB):c.978G>C (p.Leu326=) rs138261300 0.00011
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly) rs749347602 0.00008
NM_000521.4(HEXB):c.216C>T (p.Leu72=) rs780221860 0.00008
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1251G>A (p.Pro417=) rs144264311 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000521.4(HEXB):c.1374A>G (p.Gln458=) rs200714672 0.00004
NM_000521.4(HEXB):c.1508+7G>A rs1016425766 0.00004
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser) rs200209801 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000521.4(HEXB):c.1281C>T (p.Ser427=) rs140443258 0.00003
NM_000521.4(HEXB):c.1419T>C (p.Gly473=) rs150778823 0.00003
NM_000521.4(HEXB):c.633A>G (p.Arg211=) rs750864626 0.00003
NM_000521.4(HEXB):c.657T>C (p.Ile219=) rs141175812 0.00003
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1418-5T>C rs773772578 0.00002
NM_000521.4(HEXB):c.174C>T (p.Pro58=) rs769964813 0.00002
NM_000521.4(HEXB):c.354C>T (p.Phe118=) rs755175110 0.00002
NM_000521.4(HEXB):c.1041A>G (p.Gln347=) rs755091383 0.00001
NM_000521.4(HEXB):c.1242+17C>A rs1223566396 0.00001
NM_000521.4(HEXB):c.1243-8G>A rs776913614 0.00001
NM_000521.4(HEXB):c.126G>A (p.Ala42=) rs1457481809 0.00001
NM_000521.4(HEXB):c.138G>T (p.Pro46=) rs1378693652 0.00001
NM_000521.4(HEXB):c.1482T>C (p.Asp494=) rs1241194558 0.00001
NM_000521.4(HEXB):c.1539C>A (p.Leu513=) rs1258974496 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.1614-10T>C rs1579958155 0.00001
NM_000521.4(HEXB):c.1614-4A>G rs1182075193 0.00001
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=) rs1315099188 0.00001
NM_000521.4(HEXB):c.180G>A (p.Pro60=) rs772089862 0.00001
NM_000521.4(HEXB):c.189G>A (p.Val63=) rs145144279 0.00001
NM_000521.4(HEXB):c.210G>T (p.Leu70=) rs552152839 0.00001
NM_000521.4(HEXB):c.249C>T (p.Pro83=) rs776301441 0.00001
NM_000521.4(HEXB):c.33G>T (p.Pro11=) rs1207274571 0.00001
NM_000521.4(HEXB):c.36C>T (p.Pro12=) rs1311449316 0.00001
NM_000521.4(HEXB):c.471G>A (p.Val157=) rs918729308 0.00001
NM_000521.4(HEXB):c.486C>A (p.Ala162=) rs1342668095 0.00001
NM_000521.4(HEXB):c.525T>C (p.Phe175=) rs766197541 0.00001
NM_000521.4(HEXB):c.654T>C (p.Ile218=) rs1395527567 0.00001
NM_000521.4(HEXB):c.66G>A (p.Leu22=) rs1355564918 0.00001
NM_000521.4(HEXB):c.69G>T (p.Leu23=) rs1453045657 0.00001
NM_000521.4(HEXB):c.723C>T (p.Asp241=) rs779260926 0.00001
NM_000521.4(HEXB):c.738T>C (p.Tyr246=) rs777853621 0.00001
NM_000521.4(HEXB):c.855C>A (p.Val285=) rs781190762 0.00001
NM_000521.4(HEXB):c.873C>T (p.Thr291=) rs778593630 0.00001
NM_000521.4(HEXB):c.888A>G (p.Leu296=) rs1186019854 0.00001
NM_000521.4(HEXB):c.902-5T>G rs201521887 0.00001
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
NM_000521.4(HEXB):c.1026G>A (p.Glu342=) rs2112175234
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu) rs774657424
NM_000521.4(HEXB):c.1029G>A (p.Val343=) rs767987520
NM_000521.4(HEXB):c.1029G>C (p.Val343=) rs767987520
NM_000521.4(HEXB):c.102G>T (p.Ala34=)
NM_000521.4(HEXB):c.1050T>C (p.His350=)
NM_000521.4(HEXB):c.1062T>C (p.Asp354=) rs1749653155
NM_000521.4(HEXB):c.1082+12C>T
NM_000521.4(HEXB):c.1082+13C>A
NM_000521.4(HEXB):c.1082+20C>G
NM_000521.4(HEXB):c.1082+7T>A rs1249872768
NM_000521.4(HEXB):c.1082+7T>C
NM_000521.4(HEXB):c.1083-10T>A rs2112176963
NM_000521.4(HEXB):c.1083-12T>G
NM_000521.4(HEXB):c.1083-15C>A
NM_000521.4(HEXB):c.1083-6C>G
NM_000521.4(HEXB):c.1086A>G (p.Glu362=) rs2112176992
NM_000521.4(HEXB):c.108G>A (p.Val36=) rs1275258823
NM_000521.4(HEXB):c.1101T>C (p.Ile367=) rs1749677760
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
NM_000521.4(HEXB):c.1149A>G (p.Leu383=) rs1336014813
NM_000521.4(HEXB):c.114G>A (p.Gln38=)
NM_000521.4(HEXB):c.1155T>C (p.Ser385=)
NM_000521.4(HEXB):c.1158C>T (p.Phe386=)
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=) rs2112177152
NM_000521.4(HEXB):c.1169+18C>T
NM_000521.4(HEXB):c.1169+8G>A
NM_000521.4(HEXB):c.1169+8G>T rs778530133
NM_000521.4(HEXB):c.1170-10G>A
NM_000521.4(HEXB):c.1170-11T>C
NM_000521.4(HEXB):c.1170-11T>G
NM_000521.4(HEXB):c.1170-12T>G
NM_000521.4(HEXB):c.1170-16T>A
NM_000521.4(HEXB):c.1170-16T>G
NM_000521.4(HEXB):c.1170-17T>A
NM_000521.4(HEXB):c.1170-18A>C
NM_000521.4(HEXB):c.1170-18A>T
NM_000521.4(HEXB):c.1170-4C>T rs2112179635
NM_000521.4(HEXB):c.1170-5A>C
NM_000521.4(HEXB):c.1170-6T>C rs2112179633
NM_000521.4(HEXB):c.1170-9T>A
NM_000521.4(HEXB):c.117G>T (p.Val39=)
NM_000521.4(HEXB):c.1191C>T (p.Thr397=)
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
NM_000521.4(HEXB):c.1242+10G>A
NM_000521.4(HEXB):c.1242+18T>C
NM_000521.4(HEXB):c.1242+9dup
NM_000521.4(HEXB):c.1243-15T>C
NM_000521.4(HEXB):c.1243-18A>C
NM_000521.4(HEXB):c.1243-20G>A
NM_000521.4(HEXB):c.1243-9C>T rs771008510
NM_000521.4(HEXB):c.1251G>C (p.Pro417=)
NM_000521.4(HEXB):c.1251G>T (p.Pro417=) rs144264311
NM_000521.4(HEXB):c.1263T>G (p.Val421=) rs1454392093
NM_000521.4(HEXB):c.126G>T (p.Ala42=) rs1457481809
NM_000521.4(HEXB):c.1275A>G (p.Lys425=) rs2112180604
NM_000521.4(HEXB):c.1284A>G (p.Ala428=)
NM_000521.4(HEXB):c.1296A>G (p.Glu432=) rs1456292951
NM_000521.4(HEXB):c.12C>T (p.Cys4=) rs2112122203
NM_000521.4(HEXB):c.1314A>G (p.Ala438=)
NM_000521.4(HEXB):c.1320C>G (p.Gly440=) rs976848045
NM_000521.4(HEXB):c.1320C>T (p.Gly440=)
NM_000521.4(HEXB):c.1335T>G (p.Leu445=)
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)
NM_000521.4(HEXB):c.135C>T (p.Ala45=) rs1748837958
NM_000521.4(HEXB):c.1362T>A (p.Ile454=) rs552896059
NM_000521.4(HEXB):c.1365C>T (p.Ser455=)
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
NM_000521.4(HEXB):c.138G>A (p.Pro46=) rs1378693652
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
NM_000521.4(HEXB):c.1417+19C>T
NM_000521.4(HEXB):c.1417+9A>G rs755763718
NM_000521.4(HEXB):c.1418-11T>C
NM_000521.4(HEXB):c.1418-13G>T
NM_000521.4(HEXB):c.1418-15A>G
NM_000521.4(HEXB):c.1418-15A>T
NM_000521.4(HEXB):c.1418-16A>G
NM_000521.4(HEXB):c.1418-18_1418-14del
NM_000521.4(HEXB):c.1418-21_1418-19del
NM_000521.4(HEXB):c.1437A>G (p.Gln479=) rs139129900
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
NM_000521.4(HEXB):c.1479G>A (p.Val493=)
NM_000521.4(HEXB):c.147G>A (p.Ser49=)
NM_000521.4(HEXB):c.147G>C (p.Ser49=)
NM_000521.4(HEXB):c.1494C>G (p.Leu498=) rs149960235
NM_000521.4(HEXB):c.1494C>T (p.Leu498=) rs149960235
NM_000521.4(HEXB):c.1500A>G (p.Pro500=) rs2112185426
NM_000521.4(HEXB):c.1508+11T>C
NM_000521.4(HEXB):c.1508+12A>G
NM_000521.4(HEXB):c.1508+15T>C
NM_000521.4(HEXB):c.1508+18T>C
NM_000521.4(HEXB):c.1509-10T>C
NM_000521.4(HEXB):c.1509-12T>A
NM_000521.4(HEXB):c.1509-12T>C
NM_000521.4(HEXB):c.1509-15T>C
NM_000521.4(HEXB):c.1509-18G>A
NM_000521.4(HEXB):c.1509-20A>T
NM_000521.4(HEXB):c.1509-21_1509-13del
NM_000521.4(HEXB):c.1509-21del rs747523020
NM_000521.4(HEXB):c.1509-26G>C rs201580118
NM_000521.4(HEXB):c.1509-4T>C rs2112185863
NM_000521.4(HEXB):c.1509-7A>T rs2112185850
NM_000521.4(HEXB):c.1509-7dup rs1749809709
NM_000521.4(HEXB):c.1509-8A>T
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1512T>C (p.Pro504=) rs1469774539
NM_000521.4(HEXB):c.1518A>C (p.Ala506=)
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
NM_000521.4(HEXB):c.1539C>T (p.Leu513=) rs1258974496
NM_000521.4(HEXB):c.1560A>G (p.Arg520=) rs1184573477
NM_000521.4(HEXB):c.1563T>C (p.Asp521=) rs2112186134
NM_000521.4(HEXB):c.1569T>C (p.Asp523=)
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
NM_000521.4(HEXB):c.1593G>A (p.Arg531=)
NM_000521.4(HEXB):c.159G>A (p.Gly53=) rs1428463982
NM_000521.4(HEXB):c.15G>T (p.Gly5=)
NM_000521.4(HEXB):c.1605G>A (p.Arg535=)
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
NM_000521.4(HEXB):c.1613+10del rs2112186585
NM_000521.4(HEXB):c.1613+11T>G
NM_000521.4(HEXB):c.1613+13_1613+15del
NM_000521.4(HEXB):c.1613+14T>A
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+15_1613+16dup
NM_000521.4(HEXB):c.1613+15_1613+19dup
NM_000521.4(HEXB):c.1613+17G>T
NM_000521.4(HEXB):c.1613+19C>G
NM_000521.4(HEXB):c.1613+19C>T
NM_000521.4(HEXB):c.1613+6_1613+21dup rs2112186573
NM_000521.4(HEXB):c.1613+7_1613+21dup
NM_000521.4(HEXB):c.1613+8A>C
NM_000521.4(HEXB):c.1614-19_1614-18del
NM_000521.4(HEXB):c.1614-6C>T
NM_000521.4(HEXB):c.1614-7dup rs2112188857
NM_000521.4(HEXB):c.1614-8A>G rs745567727
NM_000521.4(HEXB):c.1614-9T>C
NM_000521.4(HEXB):c.1617T>A (p.Arg539=)
NM_000521.4(HEXB):c.1626T>C (p.Ala542=)
NM_000521.4(HEXB):c.1629A>G (p.Ala543=)
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=) rs2112189098
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
NM_000521.4(HEXB):c.1653T>C (p.Cys551=)
NM_000521.4(HEXB):c.165G>T (p.Ala55=)
NM_000521.4(HEXB):c.166C>T (p.Leu56=)
NM_000521.4(HEXB):c.1671A>G (p.Ter557=)
NM_000521.4(HEXB):c.16C>T (p.Leu6=) rs1580376985
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)
NM_000521.4(HEXB):c.201G>A (p.Pro67=) rs371914695
NM_000521.4(HEXB):c.219C>A (p.Ala73=)
NM_000521.4(HEXB):c.219C>G (p.Ala73=) rs771754401
NM_000521.4(HEXB):c.21G>A (p.Gly7=)
NM_000521.4(HEXB):c.231C>T (p.Phe77=)
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
NM_000521.4(HEXB):c.240C>T (p.Ser80=) rs2112123022
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
NM_000521.4(HEXB):c.261G>A (p.Ala87=)
NM_000521.4(HEXB):c.264C>A (p.Gly88=)
NM_000521.4(HEXB):c.264C>G (p.Gly88=)
NM_000521.4(HEXB):c.267C>T (p.Pro89=)
NM_000521.4(HEXB):c.276C>A (p.Thr92=) rs140509633
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
NM_000521.4(HEXB):c.299+12C>T
NM_000521.4(HEXB):c.299+14G>A
NM_000521.4(HEXB):c.299+15_299+23del
NM_000521.4(HEXB):c.299+17C>A
NM_000521.4(HEXB):c.299+17C>G
NM_000521.4(HEXB):c.299+18G>T
NM_000521.4(HEXB):c.299+19G>A
NM_000521.4(HEXB):c.300-18C>T
NM_000521.4(HEXB):c.300-20T>C
NM_000521.4(HEXB):c.300-4dup
NM_000521.4(HEXB):c.300-6A>G
NM_000521.4(HEXB):c.300-7C>T rs2112129012
NM_000521.4(HEXB):c.303T>C (p.Tyr101=) rs768307371
NM_000521.4(HEXB):c.306T>C (p.His102=)
NM_000521.4(HEXB):c.321T>A (p.Gly107=)
NM_000521.4(HEXB):c.339T>C (p.His113=) rs1748944024
NM_000521.4(HEXB):c.345T>C (p.Pro115=) rs1467307393
NM_000521.4(HEXB):c.378A>G (p.Gln126=) rs2112129226
NM_000521.4(HEXB):c.381T>C (p.Leu127=) rs2112129230
NM_000521.4(HEXB):c.387C>G (p.Val129=)
NM_000521.4(HEXB):c.390A>C (p.Ser130=) rs1748945386
NM_000521.4(HEXB):c.408G>A (p.Glu136=)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.42G>C (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.42G>T (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.441G>A (p.Glu147=)
NM_000521.4(HEXB):c.445+11A>G
NM_000521.4(HEXB):c.445+12T>C
NM_000521.4(HEXB):c.445+12T>G
NM_000521.4(HEXB):c.445+14C>T
NM_000521.4(HEXB):c.445+16A>G
NM_000521.4(HEXB):c.445+7A>G rs2112129385
NM_000521.4(HEXB):c.445+8C>T
NM_000521.4(HEXB):c.446-12T>C
NM_000521.4(HEXB):c.446-21_446-14del
NM_000521.4(HEXB):c.446-4A>G
NM_000521.4(HEXB):c.446-6A>T rs763290427
NM_000521.4(HEXB):c.446-7A>G rs775644956
NM_000521.4(HEXB):c.450T>A (p.Thr150=) rs2112135859
NM_000521.4(HEXB):c.477C>T (p.Val159=)
NM_000521.4(HEXB):c.495T>C (p.Val165=)
NM_000521.4(HEXB):c.504A>C (p.Ala168=) rs993517054
NM_000521.4(HEXB):c.511+10A>C rs1172289714
NM_000521.4(HEXB):c.511+10A>G
NM_000521.4(HEXB):c.511+14A>G
NM_000521.4(HEXB):c.511+16T>G
NM_000521.4(HEXB):c.511+7T>C
NM_000521.4(HEXB):c.512-12T>C
NM_000521.4(HEXB):c.512-18A>G
NM_000521.4(HEXB):c.516A>G (p.Leu172=)
NM_000521.4(HEXB):c.519G>A (p.Glu173=) rs1422448735
NM_000521.4(HEXB):c.522C>A (p.Thr174=)
NM_000521.4(HEXB):c.52C>T (p.Leu18=)
NM_000521.4(HEXB):c.531G>A (p.Gln177=) rs923395829
NM_000521.4(HEXB):c.534A>G (p.Leu178=)
NM_000521.4(HEXB):c.552T>C (p.Tyr184=) rs573447174
NM_000521.4(HEXB):c.558+10A>G
NM_000521.4(HEXB):c.558+16A>T
NM_000521.4(HEXB):c.558+18_558+19del
NM_000521.4(HEXB):c.558+19T>C
NM_000521.4(HEXB):c.558+7A>G
NM_000521.4(HEXB):c.558+7A>T rs1252577576
NM_000521.4(HEXB):c.559-11T>C
NM_000521.4(HEXB):c.559-18A>G
NM_000521.4(HEXB):c.559-18A>T rs374665376
NM_000521.4(HEXB):c.559-4A>G rs1417706193
NM_000521.4(HEXB):c.55T>C (p.Leu19=) rs2112122357
NM_000521.4(HEXB):c.567C>A (p.Ile189=) rs2112141498
NM_000521.4(HEXB):c.567C>T (p.Ile189=) rs2112141498
NM_000521.4(HEXB):c.582T>C (p.Ile194=) rs2112141535
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
NM_000521.4(HEXB):c.594A>G (p.Pro198=)
NM_000521.4(HEXB):c.597G>A (p.Arg199=) rs1206573829
NM_000521.4(HEXB):c.60G>A (p.Ala20=)
NM_000521.4(HEXB):c.630C>T (p.Ser210=)
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
NM_000521.4(HEXB):c.654T>A (p.Ile218=) rs1395527567
NM_000521.4(HEXB):c.660T>G (p.Leu220=) rs914649805
NM_000521.4(HEXB):c.669+10T>C rs2112141738
NM_000521.4(HEXB):c.669+10T>G rs2112141738
NM_000521.4(HEXB):c.669+12C>T
NM_000521.4(HEXB):c.669+16A>G
NM_000521.4(HEXB):c.670-10T>C
NM_000521.4(HEXB):c.670-10T>G rs763971063
NM_000521.4(HEXB):c.670-13T>C
NM_000521.4(HEXB):c.670-14A>T
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.670-6T>C
NM_000521.4(HEXB):c.670-8G>A rs2112156271
NM_000521.4(HEXB):c.670-9T>G rs2112156269
NM_000521.4(HEXB):c.675C>T (p.Ala225=)
NM_000521.4(HEXB):c.699T>C (p.Val233=)
NM_000521.4(HEXB):c.69G>A (p.Leu23=) rs1453045657
NM_000521.4(HEXB):c.705C>T (p.His235=) rs2112156345
NM_000521.4(HEXB):c.711C>T (p.His237=)
NM_000521.4(HEXB):c.729T>C (p.Ser243=)
NM_000521.4(HEXB):c.72G>A (p.Ala24=)
NM_000521.4(HEXB):c.735A>T (p.Pro245=) rs758398934
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
NM_000521.4(HEXB):c.75G>A (p.Ala25=) rs1416490499
NM_000521.4(HEXB):c.771+10T>C
NM_000521.4(HEXB):c.771+14A>G
NM_000521.4(HEXB):c.771+17G>C
NM_000521.4(HEXB):c.771+20C>G
NM_000521.4(HEXB):c.771+20C>T
NM_000521.4(HEXB):c.771+8A>C
NM_000521.4(HEXB):c.771+9A>G rs768648039
NM_000521.4(HEXB):c.772-12T>C
NM_000521.4(HEXB):c.772-5T>C rs2112171612
NM_000521.4(HEXB):c.772-8T>C rs540508015
NM_000521.4(HEXB):c.79T>C (p.Leu27=)
NM_000521.4(HEXB):c.7C>T (p.Leu3=)
NM_000521.4(HEXB):c.801A>G (p.Thr267=)
NM_000521.4(HEXB):c.810T>C (p.Asp270=)
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
NM_000521.4(HEXB):c.822G>C (p.Val274=)
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
NM_000521.4(HEXB):c.838T>C (p.Leu280=) rs1057518432
NM_000521.4(HEXB):c.843A>G (p.Arg281=) rs2112171867
NM_000521.4(HEXB):c.855C>T (p.Val285=) rs781190762
NM_000521.4(HEXB):c.858G>A (p.Leu286=) rs2112171900
NM_000521.4(HEXB):c.858G>T (p.Leu286=)
NM_000521.4(HEXB):c.879G>C (p.Gly293=) rs1208134816
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
NM_000521.4(HEXB):c.901+11G>T
NM_000521.4(HEXB):c.901+7A>C
NM_000521.4(HEXB):c.901+8G>C
NM_000521.4(HEXB):c.902-15A>C
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
NM_000521.4(HEXB):c.924A>G (p.Pro308=) rs2112175034
NM_000521.4(HEXB):c.93T>C (p.Thr31=) rs1748835619
NM_000521.4(HEXB):c.946T>C (p.Leu316=)
NM_000521.4(HEXB):c.948G>A (p.Leu316=) rs1749649162
NM_000521.4(HEXB):c.972T>C (p.Pro324=) rs1749650159
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
NM_000521.4(HEXB):c.993C>T (p.Ser331=) rs2112175174
NM_000521.4(HEXB):c.9G>T (p.Leu3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.